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Genomenon @genomenon.com · 11d

🗓️ Tomorrow! Meet us in Theater 2 at 10:15am EDT for our #ASHG25 CoLab talk with #GoldenHelix on Automating Genomic Workflows ⚙️ Hear how our partnership enhances genomic interpretation & delivers high-confidence, literature-backed insights to clinical laboratories worldwide.

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Genomenon @genomenon.com · 11d

October is Healthy Lung Month 🫁 Access curated literature, variant insights & clinical context for KCNK3, ENG & CFTR in #MastermindGIP plus 30 additional clinically relevant genes through December 🧬 Get started with a free account today: bit.ly/3W6L2uI

Genomenon @genomenon.com · 12d

Meet us at #ASHG25 this week in Boston! 🤝 Live demos of #MastermindGIP and #CKB at Booth 1258, check out our CoLab with Golden Helix on Thursday in Theater 2 & ask us about our poster submission! Connect with the team to learn how we're making genomic evidence actionable 🧬

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Genomenon @genomenon.com · 19d

Attending #ASHG25? Stop by Booth 1258 for live demos, join us for a CoLab talk with #GoldenHelix & see our poster on 'Proportions of Missense, De Novo, and Disease Subtype Observations in Patients with COL1A1 & COL1A2 related Osteogenesis Imperfecta from the Literature'🧬

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Genomenon @genomenon.com · 20d

#GLUT1DeficiencySyndrome is a rare neurological disorder caused by pathogenic variants in the SLC2A1 gene 🧬 This along with 32 other clinically relevant genes are freely available in Mastermind CORE through December. Get started today with a free account: bit.ly/48cZYP6

Genomenon @genomenon.com · 24d

❔How do you take 20,000+ oncology tests a year and make the results faster, consistent, and actionable? Read the latest #webinar recap with CKB & Northwestern Medicine: bit.ly/4mHDtpb

Genomenon @genomenon.com · 24d

Today we honor those living with #LaforaDisease, their families & the researchers striving for breakthroughs. Awareness is the first step toward better care and better therapies. Get Mastermind PRO & access this valuable data: bit.ly/4gUvXWC

Genomenon @genomenon.com · Sep 25

By drawing on functional studies, case series, patient registries & decades of literature, #RWE provides the missing context to reclassify uncertain variants as pathogenic or benign - turning ambiguity into actionable knowledge. See the latest #blog:

The Role of RWE in Variant Reclassification

When a genetic test reveals a variant of uncertain significance (VUS), patients and clinicians are left in limbo. Is the variant harmless? Is it disease-causing? Without clarity, treatment decisions…

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Genomenon @genomenon.com · Sep 17

Every baby deserves the best possible start in life. 💙 That’s why Newborn Screening Awareness Month matters to us at Genomenon. 👉 Learn how we’re helping shape the future of #NBS www.genomenon.com/blog/future-...

Genomenon @genomenon.com · Sep 8

In honor of #CharcotMarieTooth Awareness Month, the LMNA gene 🧬 is free to explore in #MastermindGIP throughout September. Not a user yet? Create your free account: mastermind.genomenon.com/users/sign_u...

Genomenon @genomenon.com · Aug 22

🧬 #ABCB1 encodes P-glycoprotein, a “drug pump” moving chemo drugs out of cells. Variants can alter response - sometimes the difference between a drug that works and one that fails #GeneFact #Genomics #CancerResearch #CKB

Genomenon @genomenon.com · Aug 22

Today is SATB2-Associated Syndrome Awareness Day! #SATB2 variants cause a rare syndrome affecting brain, facial, and speech development. Free through September: Explore SATB2 + 32 genes in #MastermindGIP: mastermind.genomenon.com/users/sign_u...

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Genomenon @genomenon.com · Aug 20

August is #AppendixCancer Awareness Month. Variants in BRAF, GNAS, KRAS & ATM drive this rare disease - explore 50 curated cancer genes free in #CKB CORE: ckb.genomenon.com?utm_source=b...

Genomenon @genomenon.com · Aug 18

One of the richest sources of #RealWorldEvidence is hiding in plain sight: the scientific literature 📄 Learn why overlooking it means missing opportunity: www.genomenon.com/blog/scienti...

The Overlooked Goldmine: Why Scientific Literature Is a Critical Source of Real-World Evidence

When conversations turn to real-world evidence (RWE), the spotlight often falls on the big datasets - electronic health records, insurance claims, patient registries. To truly see what’s happening in…

www.genomenon.com

Genomenon @genomenon.com · Aug 15

🧬 Variants in #RYR2 can cause #CPVT - a hidden heart disorder where the first sign may be sudden death. Early testing & family screening can save lives. Explore this gene in #MastermindGIP 🔎 mastermind.genomenon.com/gene?gene=ry...

Genomenon @genomenon.com · Aug 14

In genomics, context is everything. A variant's relevance can shift dramatically based on the latest research. That’s why maintenance is not an afterthought; it’s a core part of what makes #CKB trustworthy. Read how we keep CKB accurate, current & trusted:
www.genomenon.com/blog/cancer-...

Genomenon @genomenon.com · Aug 13

August is Autoinflammatory Disease Awareness Month! Familial Mediterranean Fever #FMF is a genetic disorder caused by pathogenic variants in the MEFV gene 🧬 Free through September - access #MEFV in Mastermind & 32 other clinically significant genes: mastermind.genomenon.com/users/sign_u...

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Genomenon @genomenon.com · Aug 11

With the Cancer Knowledgebase #CKB - a Variant of Uncertain Significance #VUS isn’t a final answer - it’s a starting point. It marks where science still has room to grow & where our work continues. Learn more: ckb.genomenon.com?utm_source=b...

Genomenon @genomenon.com · Aug 8

❔ Did you know? Germline variants in the #PALB2 gene significantly increase breast cancer risk - often nearly as much as variants in #BRCA1 and #BRCA2.

Explore the most comprehensive, curated PALB2 data available - completely free in Mastermind! mastermind.genomenon.com/users/sign_u...

Genomenon @genomenon.com · Aug 7

👓 August is Children's Eye Health and Safety Month & through September we’re making EYS and 32 other clinically important genes freely available in #MastermindGIP! 🧬 Start searching today: mastermind.genomenon.com/users/sign_u...

Genomenon @genomenon.com · Jul 28

#ICYMI Watch last month's webinar with UCB on 'Real-World Evidence for Precision Therapeutics' & learn how our partnership accelerates accurate diagnosis but also reduces barriers to genetic testing, ultimately improving patient outcomes & informing care strategies www.genomenon.com/resource/rea...

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Genomenon @genomenon.com · Jul 24

The latest update from the Cancer Knowledgebase (#CKB) shows continued momentum in evidence-based cancer genomics. 👉 Explore how CKB supports faster decisions and smarter strategies in #precisionmedicine: www.genomenon.com/somatic-cura...

Genomenon @genomenon.com · Jul 22

#WorldBrainDay is a reminder of how far we’ve come & how far we still need to go in understanding complex brain disorders 🧠 Explore 535 genes and 36,000+ variants from top neuro panels in #MastermindGIP mastermind.genomenon.com/users/sign_u...

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Genomenon @genomenon.com · Jul 17

Rare but relentless #bonecancer demands our attention! July is Bone Cancer Awareness Month. Dive deeper into variants to curated evidence, treatment options, and active clinical trials in #CKB 🔎🧬 ckb.genomenon.com?utm_source=b...

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Genomenon @genomenon.com · Jul 10

We're excited to announce our partnership with UCB to accelerate research and diagnosis for thymidine kinase 2 deficiency (TK2d)—a devastating but underdiagnosed rare mitochondrial disease. Read the #pressrelease ➡️ www.genomenon.com/news-press-e...

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